Linked Data
ClinVar Variation Id:
1591597
ClinVar RCV Id:
RCV002096282
dbSNP Id:
rs1246523840
gnomAD v2:
8-24813967-C-A
gnomAD v4:
8-24956453-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956453C>A , CM000670.2:g.24956453C>A | GRCh38 |
| NC_000008.10:g.24813967C>A , CM000670.1:g.24813967C>A | GRCh37 |
| NC_000008.9:g.24869884C>A | NCBI36 |
| NG_008492.1:g.5165G>T , LRG_259:g.5165G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.63G>T MANE Select | ENSP00000482169.2:p.Thr21= | |
| ENST00000610854.1:c.63G>T | ENSP00000482169.1:p.Thr21= | |
| ENST00000615973.1:n.269G>T | ||
| ENST00000619417.1:c.63G>T | ENSP00000483690.1:p.Thr21= | |
| NM_006158.4:c.63G>T , LRG_259t1:c.63G>T | NP_006149.2:p.Thr21= | |
| NM_006158.5:c.63G>T MANE Select | NP_006149.2:p.Thr21= |